Loading...
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
BACKGROUND: Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute...
Na minha lista:
| Udgivet i: | BMC Pediatr |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2018
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6025733/ https://ncbi.nlm.nih.gov/pubmed/29958533 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1185-9 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|